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Carlo Fusco

Showing results (101-110 of 149) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 19, 2015
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patientsCostanza Lamperti, Federica Invernizzi, Roberta Solazzi, et al.
Molecular Syndromology|February 15, 2024
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the LiteratureMargherita Baga, Ivan Ivanovski, Gianluca Contrò, et al.
Neuropediatrics|November 14, 2024
Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case ReportAngelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, et al.
Children (Basel, Switzerland)|November 27, 2025
A Boy with a Novel Variant in <i>TCF20</i>: An Expanded Phenotype and a Brief Review of the LiteratureDiletta Ziveri, Carlo Alberto Cesaroni, Gianluca Contrò, et al.
American Journal of Medical Genetics. Part A|August 6, 2025
Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3: A Case Report and a Brief Review of the LiteratureGiulia Pisanò, Carlo Alberto Cesaroni, Susanna Rizzi, et al.
Neurogenetics|April 23, 2024
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literatureCarlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, et al.
Acta Bio-Medica : Atenei Parmensis|March 9, 2022
Late diagnosis of severe long-standing autoimmune hypothyroidism after the first lockdown for the Covid-19 pandemic: clinical features and follow-upMorena Luce Mansueto, Giulia Zagni, Chiara Sartori, et al.
Behavioural Neurology|September 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi ConsensusCarlotta Spagnoli, Roberta Battini, Filippo Manti, et al.
Cerebellum (London, England)|October 13, 2023
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, et al.
Plos One|October 11, 2007
The chemokine receptor CXCR4 strongly promotes neuroblastoma primary tumour and metastatic growth, but not invasionRoland Meier, Annick Mühlethaler-Mottet, Marjorie Flahaut, et al.
Pageof 15

Showing results (101-110 of 149) with videos related to

Sort By:
Pageof 15
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 19, 2015
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patientsCostanza Lamperti, Federica Invernizzi, Roberta Solazzi, et al.
Molecular Syndromology|February 15, 2024
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the LiteratureMargherita Baga, Ivan Ivanovski, Gianluca Contrò, et al.
Neuropediatrics|November 14, 2024
Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case ReportAngelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, et al.
Children (Basel, Switzerland)|November 27, 2025
A Boy with a Novel Variant in <i>TCF20</i>: An Expanded Phenotype and a Brief Review of the LiteratureDiletta Ziveri, Carlo Alberto Cesaroni, Gianluca Contrò, et al.
American Journal of Medical Genetics. Part A|August 6, 2025
Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3: A Case Report and a Brief Review of the LiteratureGiulia Pisanò, Carlo Alberto Cesaroni, Susanna Rizzi, et al.
Neurogenetics|April 23, 2024
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literatureCarlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, et al.
Acta Bio-Medica : Atenei Parmensis|March 9, 2022
Late diagnosis of severe long-standing autoimmune hypothyroidism after the first lockdown for the Covid-19 pandemic: clinical features and follow-upMorena Luce Mansueto, Giulia Zagni, Chiara Sartori, et al.
Behavioural Neurology|September 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi ConsensusCarlotta Spagnoli, Roberta Battini, Filippo Manti, et al.
Cerebellum (London, England)|October 13, 2023
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, et al.
Plos One|October 11, 2007
The chemokine receptor CXCR4 strongly promotes neuroblastoma primary tumour and metastatic growth, but not invasionRoland Meier, Annick Mühlethaler-Mottet, Marjorie Flahaut, et al.
Pageof 15